Hi I'm Erin! I'm so excited to be at BLI for this research program. I have a particular interest in genetics and neuroscience. I like to think that I'm pretty funny, but I'm sure others disagree. During the summer I volunteer at a local hospital, now I have almost 200 hours! In the future, I plan to pursue Neuroscience and genetics in college. After, I want to go to medical school and become a pediatric neurosurgeon. I realize I'm jumping all over the place, but that's just me! I love to travel as well and have been to france, Germany, and Spain. In fact, I love spanish! It's my favorite non-science class at school.
Gene therapy is an experimental treatment for diseases that do not have cures; and example would be Cystic Fibrosis or Hemophilia. Generally, the use of gene therapy as a treatment is only reserved for those that have no other options. This is because there are still many things left that need to be discovered. ReseArch and trials now are focusing on introducing genes to help the body fight diseases, knocking out mutated genes that are negatively contributing, and replacing mutated genes with a functioning copy. Because of this research and its advancements, there ar promising results for some types of cancer, inherited diseases, and certain viral infections.
(Below: a pie chart of the number of clinical trials with gene therapy as of 2015)
Gene therapy, despite the concept sounding difficult, in theory, it is rather simple. It has been engineered to overcome one of the major problems with inserting genes into a living human’s genome. DNA that is introduced to human somatic cells rarely ever becomes activated, or even makes it to the nucleus. Researchers realized this and have tackled that problem by using inactive forms of viruses, specifically retroviruses. Retroviruses were chosen because they are taken into the cell and brought directly to the nucleus to meld their DNA into the DNA of the cell. This allows the DNA to attach to the chromosomes and begin to be cogpied. Adenoviruses can also be used, but they don't mix their DNA into the cells. The DNA is just introduced to the nucleus.
(Above: the different retroviruses used and their tethering factors and DNA introduction)
(Above: the process of a retrovirus being taken into a cell)
These viruses can be introduced into the body in two ways. The viruses can be given intravenously or ex vivo. When given intravenously, they can be injected into the desired tissue or organ. This is the least invasive of the two ways to do gene therapy. With ex vivo therapy, a cluster of cells is removed from the desired location, such as a tumor, then the virus is introduced in a lab setting. Then, the cells are put back into the body, so they can reproduce and hopefully spread the modification. This is very useful in cancerous tumors. Doctors can remove part of the tumor, insert a gene for cell termination, And then put it back in. The gene will passed around and then the cells will terminate themselves.
(Below: more in depth explanation of Ex Vivo gene therapy)
Gene therapy is generally used as a sort of last resort. However, recent studies have shown that with modern technology, it should start to become the primary treatment for some diseases. Many of those who get it have no other choice. Maybe their treatment isn't working or there isn't a matching donor for the tissue needed. It's also less damaging to the patient than treatments like chemotherapy or radiation. Gene therapy can target a specific area whereas chemo attacks many parts of the body, not just the cancer. In addition to these benefits, gene therapy treats patients and when combined with immunotherapy, the survival rate for cancer increases exponentially (See below).
As with almost all synthetic biology or biotechnology, this is a relatively new treatment. It was first discovered in 1995 in a collaboration between the National Heart, Lung, and Blood Institute and the National Cancer Institute. From then, it was five more years before they started the first clinical trial on a four year old girl with ADA deficiency. It was a huge success. She is still living her life as a normal person when the mortality rate for ADA is almost 100% without treatment. In 1993, they did clinical trials with newborns. This was extremely successful and is still in practice today.
(Above: the researchers with the first two children treated with gene therapy)
While researchers have been researching for many years, there are still discoveries to be found and clinical trials to be conducted. At a convention in Evry, France at Genethon, Fulvio Mavilio presented his findings from a 10 year clinical trial/study. He studied gene therapy for inherited blood diseases, focusing on ADA deficiency. They chose ADA because it is fatal without treatment, but traditional treatment is only available in the form of bone marrow transplants of a perfect match to one-third of patients. The study included 14 patients treated from 2000-2009. All of the patients survived and all of them experienced immunological reconstitution. The majority of patients didn't need any more treatments after the study either.
(Above: results of the gene therapy in different types of bone cells)
While there are many positives in this therapy, there are a few risks. The immune system may attack the replaced gene and cause inflammation. The gene might be inserted into the wrong place or the virus might send the genes to the wrong set of cells. In addition to all of these, the deactivated virus could still infect someone.
These problems have been exaggerated by movies and in the public eye. Political cartoons have been made highlighting the dangers of using viruses as the chassis for the replacement (see above). Research still needs to be done, but it's is a promising therapy for many people.
Gene Therapy Powepoint
Research project
Gene therapy is an experimental treatment for diseases that do not have cures; and example would be Cystic Fibrosis or Hemophilia. Generally, the use of gene therapy as a treatment is only reserved for those that have no other options. This is because there are still many things left that need to be discovered. ReseArch and trials now are focusing on introducing genes to help the body fight diseases, knocking out mutated genes that are negatively contributing, and replacing mutated genes with a functioning copy. Because of this research and its advancements, there ar promising results for some types of cancer, inherited diseases, and certain viral infections.
(Below: a pie chart of the number of clinical trials with gene therapy as of 2015)
Gene therapy, despite the concept sounding difficult, in theory, it is rather simple. It has been engineered to overcome one of the major problems with inserting genes into a living human’s genome. DNA that is introduced to human somatic cells rarely ever becomes activated, or even makes it to the nucleus. Researchers realized this and have tackled that problem by using inactive forms of viruses, specifically retroviruses. Retroviruses were chosen because they are taken into the cell and brought directly to the nucleus to meld their DNA into the DNA of the cell. This allows the DNA to attach to the chromosomes and begin to be cogpied. Adenoviruses can also be used, but they don't mix their DNA into the cells. The DNA is just introduced to the nucleus.
(Above: the different retroviruses used and their tethering factors and DNA introduction)
(Above: the process of a retrovirus being taken into a cell)
These viruses can be introduced into the body in two ways. The viruses can be given intravenously or ex vivo. When given intravenously, they can be injected into the desired tissue or organ. This is the least invasive of the two ways to do gene therapy. With ex vivo therapy, a cluster of cells is removed from the desired location, such as a tumor, then the virus is introduced in a lab setting. Then, the cells are put back into the body, so they can reproduce and hopefully spread the modification. This is very useful in cancerous tumors. Doctors can remove part of the tumor, insert a gene for cell termination, And then put it back in. The gene will passed around and then the cells will terminate themselves.
(Below: more in depth explanation of Ex Vivo gene therapy)
Gene therapy is generally used as a sort of last resort. However, recent studies have shown that with modern technology, it should start to become the primary treatment for some diseases. Many of those who get it have no other choice. Maybe their treatment isn't working or there isn't a matching donor for the tissue needed. It's also less damaging to the patient than treatments like chemotherapy or radiation. Gene therapy can target a specific area whereas chemo attacks many parts of the body, not just the cancer. In addition to these benefits, gene therapy treats patients and when combined with immunotherapy, the survival rate for cancer increases exponentially (See below).
As with almost all synthetic biology or biotechnology, this is a relatively new treatment. It was first discovered in 1995 in a collaboration between the National Heart, Lung, and Blood Institute and the National Cancer Institute. From then, it was five more years before they started the first clinical trial on a four year old girl with ADA deficiency. It was a huge success. She is still living her life as a normal person when the mortality rate for ADA is almost 100% without treatment. In 1993, they did clinical trials with newborns. This was extremely successful and is still in practice today.
(Above: the researchers with the first two children treated with gene therapy)
While researchers have been researching for many years, there are still discoveries to be found and clinical trials to be conducted. At a convention in Evry, France at Genethon, Fulvio Mavilio presented his findings from a 10 year clinical trial/study. He studied gene therapy for inherited blood diseases, focusing on ADA deficiency. They chose ADA because it is fatal without treatment, but traditional treatment is only available in the form of bone marrow transplants of a perfect match to one-third of patients. The study included 14 patients treated from 2000-2009. All of the patients survived and all of them experienced immunological reconstitution. The majority of patients didn't need any more treatments after the study either.
(Above: results of the gene therapy in different types of bone cells)
While there are many positives in this therapy, there are a few risks. The immune system may attack the replaced gene and cause inflammation. The gene might be inserted into the wrong place or the virus might send the genes to the wrong set of cells. In addition to all of these, the deactivated virus could still infect someone.
These problems have been exaggerated by movies and in the public eye. Political cartoons have been made highlighting the dangers of using viruses as the chassis for the replacement (see above). Research still needs to be done, but it's is a promising therapy for many people.